Individual #00033124

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RP
Owner name Kornelia Neveling


Phenotypes

retinitis pigmentosa (RP) (RP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000026553 dystrophy, macular, juvenile - - Unknown 10y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033192 DNA SEQ;SEQ-NG-S - - ABCA4, GUCA1B, RP2 4 Kornelia Neveling



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Parent #1 ?/. g.94473846G>A g.94008290G>A - - ABCA4_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling ABCA4 - - - - - 42 NM_000350.2:c.5843C>T - - r.(?) p.(Pro1948Leu) - - - - - - - - - - - - - - - - - - -
1 Parent #2 ?/. g.94473846G>A g.94008290G>A - - ABCA4_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling ABCA4 - - - - - 42 NM_000350.2:c.5843C>T - - r.(?) p.(Pro1948Leu) - - - - - - - - - - - - - - - - - - -
6 Parent #1 -/. g.42153428C>A g.42185690C>A - - GUCA1B_000001 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling GUCA1B - - - - - 3 NM_002098.5:c.465G>T - - r.(?) p.(Glu155Asp) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. g.46719498C>T g.46860063C>T - - RP2_000001 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RP2 - - - - - 3 NM_006915.2:c.844C>T - - r.(?) p.(Arg282Trp) - - - - - - - - - - - - - - - - - - -
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